Varaico: Literature-Extracted Genetic Variants

Gene:UROD

UROD

232 papers

RefSeq Summary

This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymeth...

Pfam Domains

URO-Daa 14–360UCSCUroporphyrinogen decarboxylase (URO-D)

Gene Aliases

HGNC Name

uroporphyrinogen decarboxylase

Papers
RefSeq ID
Protein change
DNA change
1–12 of 346 variants
26 papers
NM_000374.5
p.G281E
c.842G>A
18 papers
NM_000374.5
p.R292G
c.874C>G
15 papers
NM_000374.5
p.E167K
c.499G>A
12 papers
NM_000374.5
p.L253Q
c.758T>A
11 papers
NM_000374.5
p.P62L
c.185C>T
11 papers
NM_000374.5
p.Q206*
c.616C>T
11 papers
NM_000374.5
p.N304K
c.912C>A
11 papers
NM_000374.5
p.N304K
c.912C>G
10 papers
NM_000374.5
p.A80G
c.239C>G
10 papers
NM_000374.5
p.G318R
c.952G>A
10 papers
NM_000374.5
p.G318R
c.952G>C
9 papers
NM_000374.5
p.E27G
c.80A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."